Familial aggregation of both aortic and cerebral aneurysms : Evidence for a common genetic basis in a subset of families

Although previous reports have described patients with both cerebral and aortic aneurysms, any association was believed to be coincidental. In this study, we provide evidence that aortic and cerebral aneurysm formation may share a common genetic predisposition in some families. A prospective enrollm...

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Veröffentlicht in:Neurosurgery 2005-04, Vol.56 (4), p.655-661
Hauptverfasser: KIM, Dong H, VAN GINHOVEN, Grace, MILEWICZ, Dianna M, DEMPSEY, Robert J
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container_issue 4
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creator KIM, Dong H
VAN GINHOVEN, Grace
MILEWICZ, Dianna M
DEMPSEY, Robert J
description Although previous reports have described patients with both cerebral and aortic aneurysms, any association was believed to be coincidental. In this study, we provide evidence that aortic and cerebral aneurysm formation may share a common genetic predisposition in some families. A prospective enrollment of consecutive patients treated for saccular cerebral aneurysm by a single surgeon was constructed. Medical and family histories were obtained. Familial syndromes were identified when two or more first-degree relatives had diagnoses of cerebral or aortic aneurysm. Pedigrees were constructed, and asymptomatic relatives were screened. In 2.5 years, 274 patients were enrolled from 322 eligible patients (85%). A family history of aortic aneurysm was noted in 29 patients (10.5%). These patients were older, included more males, and were overwhelmingly Caucasian. Statistically significant demographic differences were noted when these families were compared with families affected by cerebral aneurysm only. A total of 110 affected family members were identified (average, 3.8 per family; range, 2-12); 59 had cerebral aneurysms, and 51 had aortic aneurysms. In some families, the association may have been coincidental. But in several families, pedigree analyses showed an inheritance pattern likely to represent autosomal dominance with variable penetrance. In addition, both cerebral and aortic phenotypes could be inherited from a parent with an aortic aneurysm, further evidence for a common genetic basis. This study, which represents the largest and most complete characterization of families affected by both cerebral and aortic aneurysms, provides evidence that a single gene defect may lead to the development of either lesion.
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In this study, we provide evidence that aortic and cerebral aneurysm formation may share a common genetic predisposition in some families. A prospective enrollment of consecutive patients treated for saccular cerebral aneurysm by a single surgeon was constructed. Medical and family histories were obtained. Familial syndromes were identified when two or more first-degree relatives had diagnoses of cerebral or aortic aneurysm. Pedigrees were constructed, and asymptomatic relatives were screened. In 2.5 years, 274 patients were enrolled from 322 eligible patients (85%). A family history of aortic aneurysm was noted in 29 patients (10.5%). These patients were older, included more males, and were overwhelmingly Caucasian. Statistically significant demographic differences were noted when these families were compared with families affected by cerebral aneurysm only. 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subjects Aortic Aneurysm - genetics
Biological and medical sciences
Boston
European Continental Ancestry Group
Family
Female
Humans
Intracranial Aneurysm - genetics
Male
Medical sciences
Neurosurgery
Pedigree
Risk Factors
Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases
title Familial aggregation of both aortic and cerebral aneurysms : Evidence for a common genetic basis in a subset of families
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